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Links from MedGen

Items: 1 to 100 of 467

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GBenign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Deletion
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GBenign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GBenign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
(R69W)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GBenign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
(V295fs +1 more)
Deletion
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
(P209S)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Deletion
(nonsense)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
(E332V +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
(A382S +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
(G189R)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(K178E)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GUncertain significance
EDA
Deletion
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
(I366F +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GUncertain significance
EDA
Single nucleotide variant
(splice acceptor variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(P191fs)
Deletion
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
(G268V +1 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GUncertain significance
EDA
(Y318H +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(T338A +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(G215E)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(G296C +1 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GBenign
EDA
(S50W)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GUncertain significance
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
(A354T +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(Y341* +2 more)
Single nucleotide variant
(nonsense)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GBenign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
(L173S)
Single nucleotide variant
(missense variant +1 more)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
(D311E +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(G221D)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
(T57R)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(C25fs)
Duplication
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
(M1R)
Single nucleotide variant
(missense variant +1 more)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Deletion
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GBenign
EDA
Single nucleotide variant
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GBenign
EDA
(R332C +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GBenign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Deletion
(intron variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Deletion
(inframe_deletion)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
(E10*)
Single nucleotide variant
(nonsense)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
(A241fs)
Deletion
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
Deletion
(inframe_deletion +1 more)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(splice acceptor variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
Deletion
(inframe_deletion)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
(D265A)
Single nucleotide variant
(missense variant +1 more)
Hypohidrotic X-linked ectodermal dysplasia
GUncertain significance
EDA
(C60R)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(P145fs)
Deletion
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(I366N +2 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GUncertain significance
EDA
(L64fs)
Deletion
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(G236S)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(Q254*)
Single nucleotide variant
(nonsense)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
(R18fs)
Insertion
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(T212A)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GUncertain significance
EDA
(G2fs)
Indel
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
Deletion
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
Deletion
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
(R273G +1 more)
Single nucleotide variant
(missense variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely pathogenic
EDA
(L96fs)
Deletion
(frameshift variant)
Hypohidrotic X-linked ectodermal dysplasia
GPathogenic
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
EDA
Single nucleotide variant
(synonymous variant)
Hypohidrotic X-linked ectodermal dysplasia
GLikely benign
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